title: Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
abstract: Hepatoblastoma is the most common primary liver tumor in childhood and occurs more commonly in families with familial adenomatous polyposis. Germline mutations of the gene responsible for familial adenomatous polyposis--adenomatous polyposis coli (APC)--are described in patients with hepatoblastoma even without a family history. We investigated children presenting with apparently sporadic hepatoblastoma between 1991 and 2004. Blood samples were available from 29 children (18 boys) whose conditions were diagnosed at a median age of 22 months (range 6-119 months). No germline APC mutations were found, which does not support the need for routine screening in sporadic hepatoblastoma in the absence of a suggestive family history of colorectal cancer or suspicion of familial adenomatous polyposis.
authors.affiliation: Cancer Research, UK Molecular and Population Genetics Laboratory, London Research Institute, London, UK.
authors.forename: Jj
authors.initials: J
authors.lastname: Harvey
authors.forename: Sk
authors.initials: S
authors.lastname: Clark
authors.forename: W
authors.initials: W
authors.lastname: Hyer
authors.forename: N
authors.initials: N
authors.lastname: Hadzic
authors.forename: Ipm
authors.initials: I
authors.lastname: Tomlinson
authors.forename: R
authors.initials: R
authors.lastname: Hinds
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000453:epidemiology / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D017491:Genes, APC; D018095:Germ-Line Mutation / Q000235:genetics*; D018197:Hepatoblastoma / Q000235:genetics*; D006801:Humans; D007223:Infant; D008113:Liver Neoplasms / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D012189:Retrospective Studies
chemical_list: D017931:DNA Primers